Key result
ANGPTL7 missense variant p.Arg220Cys is linked to ~29% lower glaucoma risk.
Why the study?
Protein-altering variants protective against human disease provide in vivo validation of therapeutic targets, prompting a search for variants conferring lower intraocular pressure and protection against glaucoma.
Do rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma in European populations?
Observational (n=514,050)
Yes
Do rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma in European populations?
Odds Ratio: 0.71 (95% CI 0.64–0.78)
p-value: p=1.9x10-12
Rare protein-altering variants in ANGPTL7 are associated with lower intraocular pressure and reduced risk of glaucoma, suggesting ANGPTL7 inhibition as a potential therapeutic strategy.
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Supports ANGPTL7 inhibition as a glaucoma therapy target; hypothesis-generating from observational data and requires prospective validation before practice change.
Tanigawa et al. (2020) conducted an observational in Glaucoma and Intraocular Pressure (n=514,050). Rare protein-altering variants in ANGPTL7 (e.g., p.Arg220Cys, p.Gln175His) vs. Non-carriers (reference allele) was evaluated on Glaucoma risk (OR 0.71, 95% CI 0.64-0.78, p=1.9x10-12). The ANGPTL7 missense variant p.Arg220Cys was associated with a 29% lower risk of glaucoma (OR 0.71), supporting the inhibition of ANGPTL7 as a potential therapeutic strategy.